T8993G-F2

**Figure 1\. Pedigree diagram for family T8993G\-F2\.**

![](/media/202606/T8993G-F2-pedigree_20260630235733656540.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8993 | m.8993T\>G | T8993G\-F2 | Finland | NARP syndrome; Leigh syndrome; retinitis pigmentosa; cognitive impairment; ataxia | 7 | 10 | 1995 | [7603783](https://pubmed.ncbi.nlm.nih.gov/7603783/) |  |

The **m.8993T\>G** variant in MT\-ATP6 was reported in family T8993G\-F2 from Finland with narp syndrome; leigh syndrome; retinitis pigmentosa; cognitive impairment; ataxia. The pedigree record reported 7 unaffected and 10 affected maternal relatives, and the carrier table includes 11 listed carriers. Homoplasmy was reported in 0/11 listed carriers; 8/11 carriers were affected, and the main clinical manifestation among affected carriers was migraine, cognitive impairment, retinitis pigmentosa, visual handicap, mild visual adaptation impairment, sensorineural hearing deficit, infantile spasms, ataxia.

# Carrier Information

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8993 | m.8993T\>G | T8993G\-F2 | T8993G\-F2\-I2 | Uninf | F | N | Y | A | ND | 36% | / | / | / | Migraine |  |
| 2 | 8993 | m.8993T\>G | T8993G\-F2 | T8993G\-F2\-II8 | Fam | F | N | Y | A | ND | 36% | / | / | / | Migraine |  |
| 3 | 8993 | m.8993T\>G | T8993G\-F2 | T8993G\-F2\-II9 | Fam | M | N | Y | A | 50 | 68% | / | / | / | Cognitive impairment; retinitis pigmentosa; visual handicap; migraine |  |
| 4 | 8993 | m.8993T\>G | T8993G\-F2 | T8993G\-F2\-III1 | Fam | F | N | Y | A | 37 | 54% | 60% | / | / | Mild visual adaptation impairment |  |
| 5 | 8993 | m.8993T\>G | T8993G\-F2 | T8993G\-F2\-III2 | Fam | F | N | Y | A | 34 | 78% | / | / | / | Cognitive impairment; sensorineural hearing deficit; retinitis pigmentosa |  |
| 6 | 8993 | m.8993T\>G | T8993G\-F2 | T8993G\-F2\-III6 | Fam | M | N | Y | A | 20 | 80% | 85% | / | / | Infantile spasms; ataxia; vomiting; retinitis pigmentosa; mental retardation |  |
| 7 | 8993 | m.8993T\>G | T8993G\-F2 | T8993G\-F2\-III8 | Fam | M | N | N | A | ND | 40% | / | / | / | Healthy |  |
| 8 | 8993 | m.8993T\>G | T8993G\-F2 | T8993G\-F2\-III9 | Fam | F | N | N | A | ND | 44% | / | / | / | Healthy |  |
| 9 | 8993 | m.8993T\>G | T8993G\-F2 | T8993G\-F2\-IV1 | Fam | F | N | N | A | ND | 41% | / | / | / | Healthy |  |
| 10 | 8993 | m.8993T\>G | T8993G\-F2 | T8993G\-F2\-IV2 | Fam | M | N | Y | D | 2 | / | 92% | / | / | Severe infantile encephalomyopathy; optic atrophy; retinal degeneration |  |
| 11 | 8993 | m.8993T\>G | T8993G\-F2 | T8993G\-F2\-IV3 | Fam | F | N | Y | D | 7mo | / | 98% | / | 96%(BRAIN); 91%(Heart); 86%(Liver); 97%(KIDNEY) | Leigh syndrome |  |

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